regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L1_chr15_23122066_23141822 | 23136585 | A | AGGATGGG others(65): Show |
disruptive_inframe_insertion | MODERATE | NA18747.hp1 | a0024 | a0024c0063 | a0024c0063t0004 | a0024c0063t0004g0106 | 1 | 204 | 0.0049 | 72 | c.75_ others(78): Show |
p.Pro others(83): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 146/2007 | 49/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136585 | A | AGGATGGG others(83): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 | a0039 | a0039c0026 | a0039c0026t0003 | a0039c0026t0003g0049 | 1 | 204 | 0.0049 | 90 | c.57_ others(96): Show |
p.Pro others(101): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 146/2007 | 49/668 | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22459011 | A | ACCCCACC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(83): Show |
a0000a0001a0004others(13): Show | a0000c0008a0000c0012a0000c0013others(16): Show | a0000c0008t0001a0000c0012t0001a0000c0013t0001others(20): Show | a0000c0008t0001g0002a0000c0008t0001g0012a0000c0008t0001g0018others(45): Show | 86 | 226 | 0.3805 | 18 | c.111 others(25): Show |
p.Pro others(29): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | A | ACCCCACC others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(77): Show |
a0000a0002a0003others(12): Show | a0000c0018a0000c0029a0000c0030others(16): Show | a0000c0018t0001a0000c0029t0013a0000c0030t0002others(19): Show | a0000c0018t0001g0002a0000c0018t0001g0012a0000c0029t0013g0021others(38): Show | 80 | 226 | 0.3540 | 36 | c.93_ others(42): Show |
p.Pro others(47): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | A | ACCCCACC others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01070.hp2 HG01081.hp2 HG01106.hp1 others(20): Show |
a0000a0006a0007others(1): Show | a0000c0010a0000c0028a0006c0006others(2): Show | a0000c0010t0002a0000c0028t0002a0006c0006t0001others(2): Show | a0000c0010t0002g0006a0000c0010t0002g0042a0000c0028t0002g0006others(6): Show | 23 | 226 | 0.1018 | 54 | c.75_ others(60): Show |
p.Pro others(65): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | A | ACCCCACC others(65): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp1 HG01261.hp1 |
a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0001 | 2 | 226 | 0.0089 | 72 | c.57_ others(78): Show |
p.Pro others(83): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | A | ACCCCACC others(119): Show |
disruptive_inframe_insertion | MODERATE | NA18612.hp1 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0001 | 1 | 226 | 0.0044 | 126 | c.128 others(133): Show |
p.Pro others(137): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459090 | C | CTCCCTAC others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 | a0039 | a0039c0052 | a0039c0052t0002 | a0039c0052t0002g0004 | 1 | 226 | 0.0044 | 36 | c.128 others(43): Show |
p.Pro others(47): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459110 | C | CCCTACCC others(29): Show |
disruptive_inframe_insertion | MODERATE | NA19006.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0026 | 1 | 226 | 0.0044 | 36 | c.128 others(43): Show |
p.Pro others(47): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 220/4401 | 129/2565 | 43/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L24_chr15_28342851_28363084 | 28350713 | C | CTCCTGCT others(179): Show |
disruptive_inframe_insertion | MODERATE | NA18950.hp1 NA19070.hp1 NA19087.hp2 |
a0014 | a0014c0013 | a0014c0013t0002 | a0014c0013t0002g0019a0014c0013t0002g0075 | 3 | 200 | 0.0150 | 186 | c.185 others(195): Show |
p.Glu others(199): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2097/4304 | 2036/2499 | 679/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28351802 | C | CATCTTCT others(14): Show |
disruptive_inframe_insertion | MODERATE | NA18950.hp2 NA18954.hp2 NA19001.hp2 |
a0029a0030a0031 | a0029c0036a0030c0038a0031c0037 | a0029c0036t0007a0030c0038t0007a0031c0037t0009 | a0029c0036t0007g0064a0030c0038t0007g0066a0031c0037t0009g0065 | 3 | 200 | 0.0150 | 21 | c.927 others(28): Show |
p.Ile others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1008/4304 | 947/2499 | 316/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | A | AGGATGGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00621.hp1 HG00733.hp2 HG01069.hp1 others(53): Show |
a0002a0004a0007others(9): Show | a0002c0002a0004c0004a0007c0006others(9): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0011others(13): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0038others(29): Show | 56 | 200 | 0.2800 | 18 | c.87_ others(24): Show |
p.Pro others(29): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 104/2499 | 35/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | NA18948.hp1 NA18954.hp1 NA19003.hp2 others(1): Show |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0003 | a0009c0009t0001g0014a0009c0009t0001g0032a0009c0009t0003g0033 | 4 | 200 | 0.0200 | 36 | c.69_ others(42): Show |
p.Pro others(47): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 104/2499 | 35/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | NA18974.hp1 NA18984.hp1 NA18989.hp1 others(6): Show |
a0005a0015 | a0005c0005a0015c0015 | a0005c0005t0001a0005c0005t0013a0015c0015t0001others(1): Show | a0005c0005t0001g0005a0005c0005t0013g0030a0015c0015t0001g0029others(1): Show | 9 | 200 | 0.0450 | 54 | c.51_ others(60): Show |
p.Pro others(65): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 104/2499 | 35/832 | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp2 HG01168.hp1 HG01516.hp2 others(2): Show |
a0006a0015 | a0006c0006a0015c0018 | a0006c0006t0001a0015c0018t0003 | a0006c0006t0001g0001a0006c0006t0001g0004a0006c0006t0001g0042others(1): Show | 5 | 98 | 0.0510 | 18 | c.69_ others(23): Show |
p.Pro others(29): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(29): Show |
disruptive_inframe_insertion | MODERATE | HG01106.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0018 | 1 | 98 | 0.0102 | 36 | c.51_ others(41): Show |
p.Pro others(47): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01433.hp2 | a0013 | a0013c0016 | a0013c0016t0002 | a0013c0016t0002g0046 | 1 | 98 | 0.0102 | 54 | c.33_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(65): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp1 HG04204.hp2 |
a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0043a0009c0012t0002g0045 | 2 | 98 | 0.0204 | 72 | c.15_ others(77): Show |
p.Pro others(83): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L25_chr15_28548568_28568779 | 28553640 | A | ACCCCACC others(101): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp2 | a0012 | a0012c0015 | a0012c0015t0002 | a0012c0015t0002g0044 | 1 | 98 | 0.0102 | 108 | c.86_ others(113): Show |
p.Pro others(119): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 148/4286 | 87/2481 | 29/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L26_chr15_23319535_23339196 | 23327154 | T | TCGTATCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 | a0024 | a0024c0026 | a0024c0026t0003 | a0024c0026t0003g0029 | 1 | 182 | 0.0055 | 21 | c.168 others(30): Show |
p.Arg others(34): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1767/3731 | 1706/1950 | 569/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327319 | C | CCACATCT others(119): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp1 | a0036 | a0036c0037 | a0036c0037t0002 | a0036c0037t0002g0050 | 1 | 182 | 0.0055 | 126 | c.154 others(135): Show |
p.Arg others(139): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1602/3731 | 1541/1950 | 514/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327802 | T | TATCTTCT others(35): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp2 HG01069.hp1 HG01069.hp2 others(88): Show |
a0001a0006a0014others(10): Show | a0001c0001a0001c0005a0006c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(52): Show | 91 | 182 | 0.5000 | 42 | c.105 others(51): Show |
p.Lys others(55): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1119/3731 | 1058/1950 | 353/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp1 | a0032 | a0032c0036 | a0032c0036t0002 | a0032c0036t0002g0047 | 1 | 182 | 0.0055 | 54 | c.68_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp1 HG01169.hp2 HG01192.hp1 others(11): Show |
a0003a0007a0015others(3): Show | a0003c0003a0007c0011a0015c0016others(3): Show | a0003c0003t0005a0007c0011t0002a0015c0016t0002others(4): Show | a0003c0003t0005g0013a0003c0003t0005g0062a0003c0003t0005g0063others(9): Show | 14 | 182 | 0.0769 | 18 | c.51_ others(23): Show |
p.Pro others(29): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 NA18522.hp1 NA18957.hp1 |
a0016a0043 | a0016c0017a0043c0046 | a0016c0017t0006a0043c0046t0004 | a0016c0017t0006g0067a0016c0017t0006g0068a0043c0046t0004g0069 | 3 | 182 | 0.0165 | 36 | c.68_ others(41): Show |
p.Pro others(47): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp1 HG02083.hp2 HG02559.hp1 |
a0037a0038a0039 | a0037c0042a0038c0041a0039c0040 | a0037c0042t0004a0038c0041t0002a0039c0040t0005 | a0037c0042t0004g0057a0038c0041t0002g0056a0039c0040t0005g0055 | 3 | 182 | 0.0165 | 54 | c.68_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(65): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0004a0013a0031 | a0004c0004a0013c0014a0031c0035 | a0004c0004t0001a0004c0004t0002a0013c0014t0002others(1): Show | a0004c0004t0001g0044a0004c0004t0002g0010a0004c0004t0002g0045others(3): Show | 8 | 182 | 0.0440 | 72 | c.68_ others(77): Show |
p.Pro others(83): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(83): Show |
disruptive_inframe_insertion | MODERATE | HG02145.hp1 HG04184.hp1 HG04199.hp1 |
a0008 | a0008c0013a0008c0028 | a0008c0013t0002a0008c0028t0002 | a0008c0013t0002g0031a0008c0013t0002g0033a0008c0028t0002g0032 | 3 | 182 | 0.0165 | 90 | c.68_ others(95): Show |
p.Pro others(101): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(137): Show |
disruptive_inframe_insertion | MODERATE | HG02965.hp1 | a0022 | a0022c0024 | a0022c0024t0002 | a0022c0024t0002g0025 | 1 | 182 | 0.0055 | 144 | c.68_ others(149): Show |
p.Pro others(155): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(29): Show |
disruptive_inframe_insertion | MODERATE | HG00735.hp2 HG01069.hp1 HG02004.hp1 others(6): Show |
a0005a0014a0034others(2): Show | a0005c0006a0014c0015a0034c0039others(2): Show | a0005c0006t0002a0005c0006t0004a0014c0015t0001others(4): Show | a0005c0006t0002g0051a0005c0006t0004g0012a0005c0006t0004g0052others(5): Show | 9 | 182 | 0.0495 | 36 | c.33_ others(41): Show |
p.Pro others(47): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(47): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG01192.hp2 HG01257.hp1 others(4): Show |
a0009a0026a0027others(2): Show | a0009c0008a0026c0032a0027c0030others(2): Show | a0009c0008t0002a0009c0008t0004a0026c0032t0002others(3): Show | a0009c0008t0002g0034a0009c0008t0002g0038a0009c0008t0004g0040others(4): Show | 7 | 182 | 0.0385 | 54 | c.15_ others(59): Show |
p.Pro others(65): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(65): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp1 HG02630.hp1 HG02717.hp1 others(2): Show |
a0012a0023a0024others(1): Show | a0012c0012a0023c0027a0024c0026others(1): Show | a0012c0012t0002a0012c0012t0004a0023c0027t0003others(2): Show | a0012c0012t0002g0027a0012c0012t0004g0030a0023c0027t0003g0026others(2): Show | 5 | 182 | 0.0275 | 72 | c.68_ others(77): Show |
p.Pro others(83): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | A | AGGATGGG others(137): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp1 | a0030 | a0030c0034 | a0030c0034t0001 | a0030c0034t0001g0042 | 1 | 182 | 0.0055 | 144 | c.68_ others(149): Show |
p.Pro others(155): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 68/1950 | 23/649 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440063 | C | CGCATCTT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 | a0010 | a0010c0030 | a0010c0030t0019 | a0010c0030t0019g0060 | 1 | 396 | 0.0025 | 21 | c.241 others(30): Show |
p.Ala others(34): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2473/3499 | 2411/2730 | 804/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(209): Show |
disruptive_inframe_insertion | MODERATE | NA19076.hp1 | a0011 | a0011c0042 | a0011c0042t0009 | a0011c0042t0009g0086 | 1 | 396 | 0.0025 | 216 | c.215 others(225): Show |
p.Arg others(229): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84239998 | T | TACGTGAA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(40): Show |
a0002a0008a0013others(5): Show | a0002c0002a0008c0006a0013c0024others(5): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0019others(10): Show | a0002c0002t0002g0001a0002c0002t0002g0042a0002c0002t0002g0047others(17): Show | 43 | 251 | 0.1713 | 21 | c.659 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 722/4553 | 660/1725 | 220/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240042 | C | CAGGAGGA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19087.hp2 | a0052 | a0052c0036 | a0052c0036t0006 | a0052c0036t0006g0002 | 1 | 251 | 0.0040 | 15 | c.688 others(22): Show |
p.Arg others(27): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 751/4553 | 689/1725 | 230/574 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240042 | C | CGTGAACA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(171): Show |
a0001a0004a0005others(29): Show | a0001c0001a0001c0009a0001c0010others(45): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(72): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(105): Show | 174 | 251 | 0.6932 | 21 | c.708 others(28): Show |
p.Leu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 791/4553 | 729/1725 | 243/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240042 | C | CGTGAACA others(35): Show |
disruptive_inframe_insertion | MODERATE | HG00621.hp1 HG02015.hp2 HG02135.hp1 others(17): Show |
a0003a0016 | a0003c0003a0003c0060a0003c0061others(1): Show | a0003c0003t0003a0003c0003t0006a0003c0060t0003others(3): Show | a0003c0003t0003g0002a0003c0003t0003g0024a0003c0003t0003g0043others(11): Show | 20 | 251 | 0.0797 | 42 | c.728 others(49): Show |
p.Leu others(55): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 791/4553 | 729/1725 | 243/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240050 | G | GGAGGAGA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01981.hp1 HG01981.hp2 HG01993.hp1 |
a0022a0030 | a0022c0030a0030c0064 | a0022c0030t0001a0030c0064t0001 | a0022c0030t0001g0014a0022c0030t0001g0074a0030c0064t0001g0014 | 3 | 251 | 0.0120 | 21 | c.716 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 779/4553 | 717/1725 | 239/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240056 | G | GAGGCTGT others(14): Show |
disruptive_inframe_insertion | MODERATE | NA18973.hp1 | a0032 | a0032c0038 | a0032c0038t0001 | a0032c0038t0001g0005 | 1 | 251 | 0.0040 | 21 | c.722 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 785/4553 | 723/1725 | 241/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240058 | G | GGCTGTGT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 NA18906.hp2 NA19043.hp2 |
a0023a0028 | a0023c0025a0028c0067 | a0023c0025t0003a0023c0025t0023a0028c0067t0003 | a0023c0025t0003g0033a0023c0025t0023g0034a0028c0067t0003g0035 | 3 | 251 | 0.0120 | 21 | c.724 others(28): Show |
p.Glu others(34): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 787/4553 | 725/1725 | 242/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240063 | T | TGTGAACA others(98): Show |
disruptive_inframe_insertion | MODERATE | HG03225.hp2 | a0038 | a0038c0056 | a0038c0056t0011 | a0038c0056t0011g0013 | 1 | 251 | 0.0040 | 105 | c.728 others(112): Show |
p.Leu others(118): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 791/4553 | 729/1725 | 243/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240125 | A | ATGTGAAC others(56): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 | a0046 | a0046c0069 | a0046c0069t0001 | a0046c0069t0001g0009 | 1 | 251 | 0.0040 | 63 | c.814 others(70): Show |
p.Leu others(76): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 877/4553 | 815/1725 | 272/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240127 | G | GTGAACAT others(77): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp2 | a0033 | a0033c0059 | a0033c0059t0003 | a0033c0059t0003g0002 | 1 | 251 | 0.0040 | 84 | c.779 others(91): Show |
p.Glu others(97): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 842/4553 | 780/1725 | 260/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240169 | A | ATGAACAG others(98): Show |
disruptive_inframe_insertion | MODERATE | NA19068.hp1 | a0036 | a0036c0040 | a0036c0040t0012 | a0036c0040t0012g0002 | 1 | 251 | 0.0040 | 105 | c.854 others(112): Show |
p.Leu others(118): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 917/4553 | 855/1725 | 285/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240169 | A | ATGAACAG others(77): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00621.hp1 HG01109.hp1 others(67): Show |
a0003a0004a0006others(13): Show | a0003c0003a0003c0060a0003c0061others(20): Show | a0003c0003t0003a0003c0003t0006a0003c0060t0003others(28): Show | a0003c0003t0003g0002a0003c0003t0003g0024a0003c0003t0003g0043others(45): Show | 70 | 251 | 0.2789 | 84 | c.884 others(91): Show |
p.Glu others(97): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 947/4553 | 885/1725 | 295/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240197 | G | GGAGGAGA others(35): Show |
disruptive_inframe_insertion | MODERATE | HG01261.hp2 NA18939.hp2 NA18964.hp1 others(2): Show |
a0012a0033 | a0012c0012a0033c0059 | a0012c0012t0001a0012c0012t0007a0033c0059t0003 | a0012c0012t0001g0007a0012c0012t0001g0083a0012c0012t0007g0084others(1): Show | 5 | 251 | 0.0199 | 42 | c.884 others(49): Show |
p.Glu others(55): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 947/4553 | 885/1725 | 295/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240445 | A | AGCAGGAG others(71): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 | a0025 | a0025c0034 | a0025c0034t0040 | a0025c0034t0040g0011 | 1 | 251 | 0.0040 | 78 | c.113 others(87): Show |
p.Glu others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1277/4553 | 1215/1725 | 405/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L6_chr15_20526856_20546800 | 20534913 | C | CATCTTCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 | a0039 | a0039c0052 | a0039c0052t0011 | a0039c0052t0011g0030 | 1 | 214 | 0.0047 | 21 | c.150 others(30): Show |
p.Ile others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1611/4013 | 1520/2175 | 507/724 | chr15 | TogoVar |